Misfolding, altered membrane distributions, and the unfolded protein response contribute to pathogenicity differences in Na,K-ATPase ATP1A3 mutations.

When quantified from eight independent experiments, the proportion of β subunit retained was barely detectable in isogenic cells expressing WT α3 (α3WT) but highly significant in both L924P and D923N, albeit lower in D923N, the mutation with the milder phenotype ( Fig. 1 B ).

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